CRSDA
MCID: CRN200
MIFTS: 24

Craniosynostosis and Dental Anomalies (CRSDA)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Craniosynostosis and Dental Anomalies

MalaCards integrated aliases for Craniosynostosis and Dental Anomalies:

Name: Craniosynostosis and Dental Anomalies 57 72 36 29 13 6 39 70
Kreiborg-Pakistani Syndrome 57 58 72
Crsda 57 72
Craniosynostosis-Dental Anomalies 58

Characteristics:

Orphanet epidemiological data:

58
craniosynostosis-dental anomalies
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
some patients have a crouzon-like appearance


HPO:

31
craniosynostosis and dental anomalies:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Craniosynostosis and Dental Anomalies

KEGG : 36 Craniosynostosis and dental anomalies (CRSDA) is an autosomal recessive form of craniosynostosis associated with delayed tooth eruption, maxillary hypoplasia, supernumerary teeth, and digit abnormalities. It was reported that affected children harbored mutations in IL11RA encoding interleukin 11 receptor, alpha. It has been suggested that IL11 signaling is essential for the normal development of craniofacial bones and teeth and that its function is to restrict suture fusion and tooth number.

MalaCards based summary : Craniosynostosis and Dental Anomalies, is also known as kreiborg-pakistani syndrome. An important gene associated with Craniosynostosis and Dental Anomalies is IL11RA (Interleukin 11 Receptor Subunit Alpha), and among its related pathways/superpathways are JAK-STAT signaling pathway and Cytokine-cytokine receptor interaction. Related phenotypes are hypertelorism and brachycephaly

OMIM® : 57 This autosomal recessive disorder is characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011). (614188) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Craniosynostosis and dental anomalies: A disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly.

Related Diseases for Craniosynostosis and Dental Anomalies

Symptoms & Phenotypes for Craniosynostosis and Dental Anomalies

Human phenotypes related to Craniosynostosis and Dental Anomalies:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 occasional (7.5%) HP:0000316
2 brachycephaly 31 occasional (7.5%) HP:0000248
3 increased number of teeth 31 occasional (7.5%) HP:0011069
4 turricephaly 31 occasional (7.5%) HP:0000262
5 hallux valgus 31 occasional (7.5%) HP:0001822
6 trigonocephaly 31 occasional (7.5%) HP:0000243
7 fingernail dysplasia 31 occasional (7.5%) HP:0100798
8 short phalanx of finger 31 occasional (7.5%) HP:0009803
9 2-3 toe syndactyly 31 occasional (7.5%) HP:0004691
10 clinodactyly 31 occasional (7.5%) HP:0030084
11 lambdoidal craniosynostosis 31 occasional (7.5%) HP:0004443
12 scaphocephaly 31 occasional (7.5%) HP:0030799
13 hypoplasia of the maxilla 31 HP:0000327
14 delayed eruption of teeth 31 HP:0000684
15 craniosynostosis 31 HP:0001363
16 coronal craniosynostosis 31 HP:0004440
17 papilledema 31 HP:0001085
18 sagittal craniosynostosis 31 HP:0004442
19 flat forehead 31 HP:0004425

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
papilledema
hypertelorism (in some patients)
exorbitism

Skeletal Feet:
clinodactyly (rare)
broad first toe (in some patients)
hallux valgus (in some patients)
syndactyly of second and third toes, mild (in some patients)

Head And Neck Teeth:
delayed eruption
malocclusion, class iii
ectopic eruption
supernumerary teeth (in some patients)

Skeletal Skull:
metopic suture synostosis
coronal suture synostosis
sagittal suture synostosis
lambdoid suture synostosis (in some patients)

Head And Neck Face:
maxillary hypoplasia

Skeletal Hands:
syndactyly (in some patients)
short phalanges (rare)

Head And Neck Head:
brachycephaly (in some patients)
scaphocephaly (in some patients)
trigonocephaly (in some patients)
turricephaly (in some patients)
sloping or flat forehead

Skin Nails Hair Nails:
dysplastic fingernails (rare)

Clinical features from OMIM®:

614188 (Updated 20-May-2021)

Drugs & Therapeutics for Craniosynostosis and Dental Anomalies

Search Clinical Trials , NIH Clinical Center for Craniosynostosis and Dental Anomalies

Genetic Tests for Craniosynostosis and Dental Anomalies

Genetic tests related to Craniosynostosis and Dental Anomalies:

# Genetic test Affiliating Genes
1 Craniosynostosis and Dental Anomalies 29 IL11RA

Anatomical Context for Craniosynostosis and Dental Anomalies

Publications for Craniosynostosis and Dental Anomalies

Articles related to Craniosynostosis and Dental Anomalies:

# Title Authors PMID Year
1
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. 6 57
21741611 2011
2
IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences. 61
29926465 2018
3
Syndromes with supernumerary teeth. 61
27250821 2016

Variations for Craniosynostosis and Dental Anomalies

ClinVar genetic disease variations for Craniosynostosis and Dental Anomalies:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL11RA NM_001142784.2(IL11RA):c.886C>T (p.Arg296Trp) SNV Pathogenic 30136 rs387906784 GRCh37: 9:34659831-34659831
GRCh38: 9:34659834-34659834
2 IL11RA NM_001142784.2(IL11RA):c.662C>G (p.Pro221Arg) SNV Pathogenic 30137 rs387906785 GRCh37: 9:34658532-34658532
GRCh38: 9:34658535-34658535
3 IL11RA NM_001142784.2(IL11RA):c.734C>G (p.Ser245Cys) SNV Pathogenic 30138 rs387906786 GRCh37: 9:34658604-34658604
GRCh38: 9:34658607-34658607
4 IL11RA IL11RA, 9-BP DUP, NT916 Duplication Pathogenic 30140 GRCh37:
GRCh38:
5 IL11RA NM_001142784.2(IL11RA):c.475C>T (p.Gln159Ter) SNV Pathogenic 30139 rs387906787 GRCh37: 9:34657328-34657328
GRCh38: 9:34657331-34657331
6 IL11RA NM_001142784.3(IL11RA):c.781C>T (p.Arg261Cys) SNV Likely pathogenic 981195 GRCh37: 9:34658651-34658651
GRCh38: 9:34658654-34658654
7 IL11RA NM_001142784.3(IL11RA):c.281G>T (p.Cys94Phe) SNV Likely pathogenic 981196 GRCh37: 9:34656855-34656855
GRCh38: 9:34656858-34656858
8 IL11RA NM_001142784.2(IL11RA):c.331+2T>C SNV Uncertain significance 522708 rs1554710108 GRCh37: 9:34656907-34656907
GRCh38: 9:34656910-34656910

UniProtKB/Swiss-Prot genetic disease variations for Craniosynostosis and Dental Anomalies:

72
# Symbol AA change Variation ID SNP ID
1 IL11RA p.Pro221Arg VAR_066666 rs387906785
2 IL11RA p.Ser245Cys VAR_066667 rs387906786
3 IL11RA p.Arg296Trp VAR_066668 rs387906784

Expression for Craniosynostosis and Dental Anomalies

Search GEO for disease gene expression data for Craniosynostosis and Dental Anomalies.

Pathways for Craniosynostosis and Dental Anomalies

Pathways related to Craniosynostosis and Dental Anomalies according to KEGG:

36
# Name Kegg Source Accession
1 JAK-STAT signaling pathway hsa04630
2 Cytokine-cytokine receptor interaction hsa04060

GO Terms for Craniosynostosis and Dental Anomalies

Sources for Craniosynostosis and Dental Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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